A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7019265



Internal ID10344998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5766175..5781682hg38UCSC Ensembl
Innerchr11:5787405..5802912hg19UCSC Ensembl
Innerchr11:5743981..5759488hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3815508
hg1915508
hg1815508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760180
Supporting Variants
SamplesRW_0361
Known GenesOR52N5
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7019265
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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